Results 11 to 20 of about 785 (222)

Cromakalim (BRL 34915) restores in vitro the membrane potential of depolarized human skeletal muscle fibres [PDF]

, 1989
The purpose of the present study was to analyze the effects of cromakalim (BRL 34915), a potent drug from a new class of drugs characterized as K+ channel openers, on the electrical activity of human skeletal muscle.
Grafe, Peter, Lehmann-Horn, Frank, Spuler, A.   +2 more
core   +1 more source

Adynamia episodica hereditaria with myotonia: A non-inactivating sodium current and the effect of extracellular pH [PDF]

, 1987
To study the mechanism of periodic paralysis, we investigated the properties of intact muscle fibers biopsied from a patient who had adynamia episodica hereditaria with electromyographic signs of myotonia.
Aickin, Becker, Bekény, Bradley, Bretag, Buchthal, Caldwell, Carson, Clausen, Drager, French, Gamstorp, Grafe, Grafe, Helweg-Larsen, Heuser, Hille, Hoff van't, Krull, Kwieciński, Kwieciński, Lehmann-Horn, Lehmann-Horn, Lehmann-Horn, Lewis, McArdle, McComas, Meulen van der, Ricker, Ricker, Riggs, Ruff, Rüdel, Rüdel, Stafstrom, Subramony, Sugimori, Thomas   +37 more
core   +1 more source

Gain of function mutants: Ion channels and G protein-coupled receptors [PDF]

, 2000
Many ion channels and receptors display striking phenotypes for gain-of-function mutations but milder phenotypes for null mutations. Gain of molecular function can have several mechanistic bases: selectivity changes, gating changes including constitutive
Karschin, Andreas, Lester, Henry A.
core   +1 more source

Voltage-gated sodium channels (NaV) in GtoPdb v.2023.1 [PDF]

, 2023
Sodium channels are voltage-gated sodium-selective ion channels present in the membrane of most excitable cells. Sodium channels comprise of one pore-forming α subunit, which may be associated with either one or two β subunits [179].
Catterall, William A., Goldin, Alan L., Waxman, Stephen G.   +2 more
core   +2 more sources

Acetazolamide opens the muscular K(Ca)2+ channel: A novel mechanism of action that may explain the therapeutic effect of the drug in hypokalemic periodic paralysis [PDF]

, 2000
Acetazolamide is a thiazide derivative clinically used in skeletal muscle disorders related to altered K+ homeostasis such as the periodic paralyses. The mechanism of action responsible for the therapeutic effects of the drug is still unknown, however ...
Barbieri, Mariagrazia, Camerino, Diana Conte, Tricarico, Domenico   +2 more
core   +1 more source

Periodic paralysis with generalized epilepsy in a Nigerian child: A case report [PDF]

, 2018
The periodic paralyses are a rare group of muscle channel opathies characterized by intermittent attacks of episodic muscle weakness of variable duration. Typically, symptoms begin in the first or second decade of life.
Imoudu, IA
core   +2 more sources

Case report: SCN4A p.R1135H gene variant in combination with thyrotoxicosis causing hypokalemic periodic paralysis [PDF]

, 2023
Hypokalemic periodic paralysis (HPP) is a heterogeneous group of diseases characterized by intermittent episodes of delayed paralysis of skeletal muscle with episodes of hypokalemia, caused by variants in CACNA1S or SCN4A genes, or secondary to ...
Banghui Xiao, Zhi Zhang
core   +1 more source

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

Potassium channel subunits encoded by the KCNE gene family: physiology and pathophysiology of the MinK-related peptides (MiRPs). [PDF]

, 2001
Voltage-gated potassium channels provide tightly Controlled, ion-specific pathways across membranes and are key to the normal function of nerves muscles. They arise from the assembly of four pore-forming proteins called alpha-subunits.
Abbott, GW, Goldstein, SA
core  

Comparative Effectiveness and Safety of Inebilizumab Versus Rituximab in AQP4‐IgG‐Positive NMOSD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Rituximab (anti‐CD20, RTX) and inebilizumab (anti‐CD19, INE) represent B‐cell‐depleting therapies used for aquaporin‐4 antibody‐positive (AQP4‐IgG+) neuromyelitis optica spectrum disorder (NMOSD); however, direct comparative evidence remains limited.
Jie Lin, Binbin Xue, Dewei Xie, Jia Li, Juyuan Pan, Lanbing Zhu, Qiaowen Tong, Jing Lin, Ruofan Zhu, Xu Zhang, Junhui Xia, Xiang Li   +11 more
wiley   +1 more source